BACKGROUND Microvillus inclusion disease(MVID)is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality.Definitive treatment involves bowel transplant.The diagnosis of ...BACKGROUND Microvillus inclusion disease(MVID)is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality.Definitive treatment involves bowel transplant.The diagnosis of this condition can be challenging and a few genetic panels are available for the identification of the most common mutations.We present the case of an infant with MVID due to a mutation not reported in the literature before.CASE SUMMARY We report the case of an infant transferred to our institution with severe diarrhea of unknown etiology,failure to thrive,and significant metabolic derangements.An extensive work-up including stool studies for common gastrointestinal pathogens,abdominal ultrasound,esophagogastroduodenoscopy with duodenal biopsy and flexible sigmoidoscopy failed to reveal a diagnosis.Multiple dietary and formula regimens were introduced but all resulted in voluminous diarrhea.She remained on total parenteral nutrition(TPN)for the duration of her hospital stay.Genetic testing was done and she was subsequently found to have a novel mutation in the MYO5B gene[homozygous mutation for MYO5B c.1462del,p.(Ile488Leufs*93)]giving us the diagnosis of MVID.She remains on TPN while awaiting bowel transplant at the time of the compilation of this case report.CONCLUSION We report a novel mutation involved in MVID and highlight the importance of considering this disease when faced with a newborn presenting with life threatening diarrhea.At the time of this publication,232 allelic variations of this gene(MIM#606540)exist in National Center for Biotechnology Information’s database.Our patient’s mutation has not been reported in literature as a cause of MVID.展开更多
The objective of this study was to determine the effects of dietary vanadium on small intestinal morphology of broilers by the methods of light microscopy (LM) and transmission electron microscopy (TEM). A total of 42...The objective of this study was to determine the effects of dietary vanadium on small intestinal morphology of broilers by the methods of light microscopy (LM) and transmission electron microscopy (TEM). A total of 420 one-day-old avian broilers were divided into six groups (seven replicates in each group and ten broilers in each replicate) and fed on a control diet or the same diet supplemented with 5, 15, 30, 45 and 60 mg/kg vanadium in the form of ammonium metavanadate for 42 days. In comparison with those in the control group, the intestinal villus heights were decreased (P < 0.05 or P < 0.01) in the 30, 45 and 60 mg/kg groups, and crypt depths and villus height/crypt depth ratio were decreased in the 45 and 60 mg/kg groups. Ultrastructurally, the microvilli were apparently sparse and short, and the numbers of lysosomes were increased in abovementioned three intestines in the 45 and 60 mg/kg groups at 42 days of age. In conclusion, dietary vanadium in excess of 30 mg/kg could alter the villus height, crypt depth, villus height/crypt depth ratio and ultrastructure, which might impact the development of small intestines in broilers.展开更多
文摘BACKGROUND Microvillus inclusion disease(MVID)is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality.Definitive treatment involves bowel transplant.The diagnosis of this condition can be challenging and a few genetic panels are available for the identification of the most common mutations.We present the case of an infant with MVID due to a mutation not reported in the literature before.CASE SUMMARY We report the case of an infant transferred to our institution with severe diarrhea of unknown etiology,failure to thrive,and significant metabolic derangements.An extensive work-up including stool studies for common gastrointestinal pathogens,abdominal ultrasound,esophagogastroduodenoscopy with duodenal biopsy and flexible sigmoidoscopy failed to reveal a diagnosis.Multiple dietary and formula regimens were introduced but all resulted in voluminous diarrhea.She remained on total parenteral nutrition(TPN)for the duration of her hospital stay.Genetic testing was done and she was subsequently found to have a novel mutation in the MYO5B gene[homozygous mutation for MYO5B c.1462del,p.(Ile488Leufs*93)]giving us the diagnosis of MVID.She remains on TPN while awaiting bowel transplant at the time of the compilation of this case report.CONCLUSION We report a novel mutation involved in MVID and highlight the importance of considering this disease when faced with a newborn presenting with life threatening diarrhea.At the time of this publication,232 allelic variations of this gene(MIM#606540)exist in National Center for Biotechnology Information’s database.Our patient’s mutation has not been reported in literature as a cause of MVID.
文摘The objective of this study was to determine the effects of dietary vanadium on small intestinal morphology of broilers by the methods of light microscopy (LM) and transmission electron microscopy (TEM). A total of 420 one-day-old avian broilers were divided into six groups (seven replicates in each group and ten broilers in each replicate) and fed on a control diet or the same diet supplemented with 5, 15, 30, 45 and 60 mg/kg vanadium in the form of ammonium metavanadate for 42 days. In comparison with those in the control group, the intestinal villus heights were decreased (P < 0.05 or P < 0.01) in the 30, 45 and 60 mg/kg groups, and crypt depths and villus height/crypt depth ratio were decreased in the 45 and 60 mg/kg groups. Ultrastructurally, the microvilli were apparently sparse and short, and the numbers of lysosomes were increased in abovementioned three intestines in the 45 and 60 mg/kg groups at 42 days of age. In conclusion, dietary vanadium in excess of 30 mg/kg could alter the villus height, crypt depth, villus height/crypt depth ratio and ultrastructure, which might impact the development of small intestines in broilers.